Marfan syndrome is a genetic disorder that affects the body’s connective tissue (Nordqvist. C, 2017). Connective tissue helps support every part in our bodies and it provides strength and flexibility to structures such as cells, bones, organs, muscles, blood vessels, and heart valves (Genetics Home Reference, 2012). The symptoms of Marfan syndrome can be vary widely to severe, and worsen with age, but mostly commonly affects the heart, eyes, blood vessels and skeleton, and the condition affects many parts of the body so it can cause many complications, which can become life threatening (Mayo Clinic, 2017) Some Marfan Syndrome features may include tall and slender build, disproportionately long arms, legs, and fingers, a breastbone that protrudes outwards or dips inward, a high, arched palate and crowded teeth, heart murmurs, extreme nearsightedness, an abnormally curved spine, and flat feet (Mayo Clinic, 2017).
The frequency of the Marfan syndrome is approximately one in five thousand worldwide (Genetics Home Reference, 2012). And about three out of four people with Marfan syndrome get the genetic mutation from a parent who has it. However, some people with Marfan syndrome are the first in their family to have it; when this happens, it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child (The Marfan Foundation, 2014).
Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength (Mayo Clinic, 2017). Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 attaches (binds) to other fibrillin-1 proteins and other molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connect tissue. Additionally, microfibrils store molecules called growth factors and release them at various times to control the growth and repair of tissues and organs throughout the body. A mutation in the FBN1 gene can reduce the amount of functional fibrillin-1 that is available to form microfibrils, which leads to decreased microfibril formation. As a result, excess growth factors are released and elasticity in many tissues is decreased, leading to overgrowth and instability of tissues (Genetic Home Reference, 2012) This genetic mutation in Marfan syndrome affect function in the bones and joints in our body, and this is most often and the first features that lead a person to suspect Marfan syndrome.
Skeletal features happen when bones and joints grow extra long or ligament become stretchy. Since the Marfan syndrome affects the connective tissue, which it holds joints together, our ligaments will become like a loose rubber band (The Marfan Foundation, 2014). Although many people with Marfan syndrome have more than one skeletal feature, only a few people have them all, which is only about one-third of people with Marfan syndrome have skeletal features so severe that they need to see an orthopedic doctor (The Marfan Foundation, 2014). When bones grow extra long, chest may sink in(pectus excavatum) or stick out(pectus carinatum or pigeon breast). This happens when ribs grow too long. And teeth maybe crooked and crowed because the roof of mouth(palate) is high and arched (The Marfan Foundation, 2014). When ligaments are stretchy and loose, spine may curve to the side(scoliosis) or forward(kyphosis). And knees, hips, shoulders, or other joints may slip out of place(dislocate) (The Marfan Foundation, 2014).
Marfan syndrome increases the risk of abnormal curves in the spine, such as scoliosis. It can also interfere with the normal development of the ribs, which can cause the breastbone to either protrude or appear sunken into the chest. Foot pain and low back pain are common with Marfan syndrome (Keer. R, 2016)
If I know someone with Marfan Syndrome, I would suggest them to do a bone and joint surgery. Although Marfan syndrome has no cure, treatment can help delay and prevent complication, so I would suggest them to do bone and joint treatment because it can repair a chest that sinks in or sticks out, it can prevent the chest from pressing on the lungs and heart (Medline Plus, 2017). Moreover, regular monitoring can help to prevent bone, joint, and tissue problems by recognizing any changes in the spine or sternum at an early stage. This can be especially helpful if the person with Marfan syndrome is a child and still growing (Nordqvist. C, 2017).